Congenital betalipoprotein deficiency syndrome

abetalipoproteinemia /abeta·lipo·pro·tein·emia/ (a-ba″tah-lip″o-pro″te-ne´me-ah) a hereditary syndrome marked by a lack of lipoproteins that contain apolipoprotein B (chylomicrons, very-low-density lipoproteins, and low-density lipoproteins) in the blood and by acanthocytosis, hypocholesterolemia, progressive ataxic neuropathy, atypical retinitis pigmentosa, and malabsorption.

normotriglyceridemic abetalipoproteinemia a variant form in which apolipoprotein (apo) B-48 is present but apo B-100 is absent; chylomicrons are formed, and some fat absorption may occur.

a·be·ta·lip·o·pro·tein·e·mi·a (

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An inherited disorder characterized by the absence of low-density lipoproteins in the plasma, the presence of acanthocytes in the blood, retinal pigmentary degeneration, malabsorption of fats, and neuromuscular abnormalities. Also called Bassen-Kornzweig syndrome.

abetalipoproteinemia

[əbā′təlīp′ōprō′tinē′mē·ə]

Etymology: Gk, a + beta, not beta, lipos, fat, proteios, first rank, haima, blood

a group of rare inherited disorders of fat metabolism, characterized by the absence of apoprotein B-100 and manifested by acanthocytosis, low or absent serum beta-lipoprotein levels, and hypocholesterolemia. In severe cases, steatorrhea, ataxia, nystagmus, motor incoordination, and retinitis pigmentosa occur. Also called Bassen-Kornzweig syndrome [-kôrn′zwīg] .

abetalipoproteinemia [a-ba″tah-lip″o-pro″te-ne´me-ah]

a rare autosomal recessive syndrome marked by a lack of low-density lipoproteins (β-lipoproteins) in the blood and by acanthocytosis, hypercholesterolemia, progressive ataxic neuropathy, atypical retinitis pigmentosa involving the macula, and malabsorption. Called also Bassen-Kornzweig syndrome.

abetalipoproteinemia

Bassen-Kornzweig syndrome A rare AR condition most common in Askanazi Jews Clinical Cerebellar ataxia, peripheral neuropathy, retinitis pigmentosa, fat malabsorption, steatorrhea, chronic diarrhea, anemia, FTT Lab Acanthocytosis, ↓ VLDL-cholesterol, ↓ LDL-cholesterol, absent apoB, when homozygous Management Medium-chain TGs, water-miscible vitamin E

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Aarskog syndrome acanthocyte acanthocytosis acquired immune deficiency syndrome Adie's syndrome AEC syndrome afferent loop syndrome Ahumada-del Castillo syndrome Alagille syndrome Alport's syndrome amnestic syndrome amniotic band syndrome Angelman's syndrome ankyloblepharon-ectodermal dysplasia-clefting syndrome anterior cord syndrome Apert's syndrome Bassen-Kornzweig syndrome de Lange's syndrome hypolipoproteinemia	confluence of sinuses confluence of the sinuses confluent confluent and reticulate papillomatosis confocal conformation conformational disease confounding confrontation confrontational visual field testing confusion confusion induction confusional state congener Congenic congenital congenital absence of sacrum and lumbar vertebrae congenital adrenal hyperplasia congenital afibrinogenemia congenital agranulocytosis congenital alopecia congenital amputation congenital anemia congenital anomaly congenital aspiration pneumonia Congenital betalipoprotein deficiency syndrome Congenital Bladder Anomalies Congenital Brain Defects congenital cardiac anomaly congenital cataract congenital cataracts congenital cerebral diplegia congenital cloaca congenital cyanosis congenital cyst Congenital cystic adenomatoid malformation congenital cytomegalovirus disease congenital dacryocele congenital dermal sinus Congenital diaphragmatic hernia congenital dislocation of the hip congenital dyserythropoietic anemia congenital dysphagocytosis congenital ectodermal defect congenital epulis congenital erythropoietic porphyria congenital facial diplegia congenital generalized fibromatosis Congenital Giant Nevus congenital glaucoma congenital goiter	congenital anomaly congenital anomaly congenital anomaly congenital anomaly congenital anomaly Congenital Anterior Urethral Diverticulum Congenital antithrombin III deficiency Congenital antithrombin III deficiency Congenital Aplasia of the Anterior Cruciate Ligament Congenital Arterio-Venous Malformation congenital arthrogryposis with dysraphism congenital arthrogryposis with dysraphism congenital arthrogryposis with dysraphism congenital articular rigidity congenital articular rigidity congenital articular rigidity congenital articular rigidity congenital articular rigidity congenital aspiration pneumonia Congenital asplenia Congenital Asymmetric Crying Facies congenital ataxia congenital ataxia congenital ataxia congenital atelectasis congenital atelectasis congenital atelectasis Congenital Atrioventricular Block Congenital Aural Atresia congenital axonopathy Congenital betalipoprotein deficiency syndrome Congenital bilateral absence of the vas deferens Congenital Bilateral Aplasia of Vas Deferens Congenital Bilateral Perisylvian Syndrome Congenital Bile Duct Dilatation Congenital Bladder Anomalies congenital bone marrow hypoplasia congenital bone marrow hypoplasia congenital bone marrow hypoplasia Congenital Bony Nasal Stenosis congenital bovine epidermolysis congenital bovine epidermolysis Congenital Bowing of the Long Bones Congenital Brain Defects congenital bronchopulmonary foregut malformation congenital bronchopulmonary foregut malformation Congenital bullous ichthyosiform erythroderma congenital cardiac anomaly congenital cataract congenital cataract congenital cataract congenital cataract congenital cataracts Congenital Cataracts, Facial Dysmorphism, and Neuropathy Congenital central hypoventilation syndrome Congenital central hypoventilation syndrome congenital cerebral diplegia congenital chondrosternal depression congenital chondrosternal depression congenital chondrosternal depression congenital chondrosternal depression

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